BFM 89.9

HIGHLIGHTS 
Podcast  >  Bigger Picture  >  Health & Living  >  Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis

Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis

Dr Sangita Dharshini Terumalay, Consultant Paediatric Neurologist | Yap Sook Yee, Parent and SMA Advocate

21-Aug-24 16:00

Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis

For a family of a child with spinal muscular atrophy (SMA), life could be divided into moments of Before and After. Before refers to the period when the parents were expecting their child and before he/she came to be diagnosed with this genetic condition. After, of course, heralds how life changed following the diagnosis. In both periods, families have very little knowledge, information and guidance related to SMA, whether in terms of prevention through genetic screening, or navigating the journey of lifelong support and interventions. In conjunction with August being SMA Awareness Month, we speak to Dr Sangita Dharshini Terumalay, Consultant Paediatric Neurologist and Yap Sook Yee, Parent and SMA Advocate, on the realities of screening, diagnosis and preparing for the journey ahead. 


Image credit: ap Sook Yee & Edmund Lim

Produced by: Tee Shiao Eek

Presented by: Tee Shiao Eek


This and more than 60,000 other podcasts in your hand. Download the all new BFM mobile app.

Categories:  wellnessmanaging diseasemedical advances

Tags:  orphan drugthe bigger picturehealth and livingspinal muscular atrophyrare diseasedisabilitygenetic diseasegenetic testing





Play / Pause

Listen now : Discovery Hour: An eclectic selection of BBC shows, curated with variety in...

Today’s Shows



6:00 AM

The 6AM Stretch

Thought-provoking discussions on ideas, people and events shaping our lives.

7:00 AM

World Market Watch

Vishnu Varathan, Head of Economics & Strategy, Mizuho Bank tells us where international markets are heading.

7:15 AM

Morning Brief

We recap global and local headlines from today's papers and portals.

7:30 AM

Morning Brief

Sim Moh Siong, Commodity Strategist, OCBC Bank gives us an outlook for oil prices.

7:45 AM

Morning Brief

Dr. Benjamin Barton, Head of School and Associate Professor at the School of Politics, History and International Relations, University of Nottingham, Malaysia, gives Europe's perspectives of the War on Iran.

8:00 AM

The Breakfast Grille

H.E Vaiollah Mohammadi Nasrabadi, Ambassador of the Islamic Republic of Iran to Malaysia discusses the situation on the ground in Iran amid ongoing US-Israel military strikes.

8:30 AM

Morning Brief

Dato’ Professor Dr. Ahmad Farhan Mohd. Sadullah of Universiti Putra Malaysia discusses the RM475 million LRT3 penalties and how future projects can avoid similar delays.

8:45 AM

Morning Brief

YB Datuk Chang Lih Kang, Minister of Science, Technology and Innovation discusses the renewal of Lynas's license.

9:00 AM

Opening Bell

(REPEAT) Vishnu Varathan, Head of Economics & Strategy, Mizuho Bank tells us where international markets are heading.

9:15 AM

Opening Bell

(REPEAT) Sim Moh Siong, Commodity Strategist, OCBC Bank gives us an outlook for oil prices.

9:35 AM

Ringgit & Sense

Farhana Roslan, Head of the Research Team at PNB Research Institute discusses the slow wage growth in Malaysia.

10:05 AM

Open For Business

Sueli Lew, CEO, Coolblog, Operating Partner at Archipelago Capital Partners

11:00 AM

Tech Talk

Sharma Lachu, Founder & CEO, Accendo Technologies

12:00 PM

Enterprise Explores

Kevin Brockland, Managing Partner at Indelible Ventures.

1:00 PM

Breakfast Grille (REPEAT)

H.E Vaiollah Mohammadi Nasrabadi, Ambassador of the Islamic Republic of Iran to Malaysia discusses the situation on the ground in Iran amid ongoing US-Israel military strikes.

2:05 PM

Discovery Hour

An eclectic selection of BBC shows, curated with variety in mind.

3:05 PM

Beyond the Ballot Box

Since the 90s India, like many countries, underwent a regressive shift in economic planning. Here’s what we can learn from them.

4:05 PM

Health & Living

A chronically blocked nose is a common symptom that children face. We look at how the different treatments stack up, especially myofunctional therapy.

5:00 PM

Top 5 at 5

A countdown of the 5 biggest stories of the day, to catch you up on all you need to know!

6:00 PM

Talkback Thursday